Tom J de Koning

Professor
More filtering options
  1. Article
  2. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

    Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, Luca Masin, Nicola Rizzardi, Mariapia Giuditta Cratere, Elisa Boschetti, Valentina Papa, Alessandra Maresca, Giovanna Cenacchi, Rita Casadio, Pierluigi Martelli, Ivana Matera & 47 others, Isabella Ceccherini, Romana Fato, Giuseppe Raiola, Serena Arrigo, Sara Signa, Angela Rita Sementa, Mariasavina Severino, Pasquale Striano, Chiara Fiorillo, Tsuyoshi Goto, Shumpei Uchino, Yoshinobu Oyazato, Hisayoshi Nakamura, Sushil K Mishra, Yu-Sheng Yeh, Takema Kato, Kandai Nozu, Jantima Tanboon, Ichiro Morioka, Ichizo Nishino, Tatsushi Toda, Yu-Ichi Goto, Akira Ohtake, Kenjiro Kosaki, Yoshiki Yamaguchi, Ikuya Nonaka, Kazumoto Iijima, Masakazu Mimaki, Hiroki Kurahashi, Anja Raams, Alyson MacInnes, Mariel Alders, Marc Engelen, Gabor Linthorst, Tom de Koning, Wilfred den Dunnen, Gerard Dijkstra, Karin van Spaendonck, Dik C van Gent, Eleonora M Aronica, Paolo Picco, Valerio Carelli, Marco Seri, Nicholas Katsanis, Floor A M Duijkers, Mariko Taniguchi-Ikeda & Roberto De Giorgio, 2021 Apr 15, In: Brain : a journal of neurology.

    Research output: Contribution to journalArticle

  3. Diagnostic approach to paediatric movement disorders: a clinical practice guide

    Rick Brandsma, Martje E. van Egmond, Marina A.J. Tijssen, T. J. de Koning & the Groningen Movement Disorder Expertise Centre the Groningen Movement Disorder Expertise Centre, 2021 Mar, In: Developmental Medicine and Child Neurology. 63, 3, p. 252-258 7 p.

    Research output: Contribution to journalArticle

  4. Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

    Deborah A Sival, Martinica Garofalo, Rick Brandsma, Tom A Bokkers, Marloes van den Berg, Tom J de Koning, Marina A J Tijssen & Dineke S Verbeek, 2020 Nov 24, In: Diagnostics. 10, 12

    Research output: Contribution to journalArticle

  5. Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

    Olga Ulmanová, Lisette H. Koens, Helena Jahnová, Jeroen J. de Vries, Tom J. de Koning, Evžen Růžička & Marina A.J. Tijssen, 2020 Sep 1, In: Movement Disorders Clinical Practice. 7, S3, p. S85-S88

    Research output: Contribution to journalArticle

  6. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

    Iris G.M. Wijnen, Hermine E. Veenstra-Knol, Fleur Vansenne, Erica H. Gerkes, Tom de Koning, Yvonne J. Vos, Marina A.J. Tijssen, Deborah Sival, Niklas Darin, Els K. Vanhoutte, Mayke Oosterloo, Maartje Pennings, Bart P. van de Warrenburg & Erik Jan Kamsteeg, 2020 Mar 10, In: European Journal of Human Genetics.

    Research output: Contribution to journalArticle

  7. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

    Sjoukje S. Polet, David G. Anderson, Lisette H. Koens, Martje E. van Egmond, Gea Drost, Esther Brusse, Michèl AAP Willemsen, Deborah A. Sival, Oebele F. Brouwer, Hubertus PH Kremer, Jeroen J. de Vries, Marina AJ Tijssen & Tom J. de Koning, 2020, In: Parkinsonism and Related Disorders. 72, p. 44-48 5 p.

    Research output: Contribution to journalArticle

  8. North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

    Roald A. Lambrechts, Sjoukje S. Polet, Alejandra Hernandez-Pichardo, Lisa van Ninhuys, Jenke A. Gorter, Nicola A. Grzeschik, Marina A.J. de Koning-Tijssen, Tom J. de Koning & Ody C.M. Sibon, 2019 Dec 15, In: Neuroscience. 423, p. 1-11 11 p.

    Research output: Contribution to journalArticle

  9. Identification of human D lactate dehydrogenase deficiency

    Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M.C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì & 8 others, Paolo Bosco, Karin Geleijns, Monique G.M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften & Judith J. Jans, 2019 Dec 1, In: Nature Communications. 10, 1, 1477.

    Research output: Contribution to journalArticle

  10. A clinical diagnostic algorithm for early onset cerebellar ataxia

    R. Brandsma, C. C. Verschuuren-Bemelmans, D. Amrom, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic-Sreckovic, O. F. Brouwer, K. Bürk, C. E. Catsman-Berrevoets, D. Craiu, I. F.M. de Coo, J. Gburek, C. Kennedy, T. J. de Koning, H. P.H. Kremer, R. Kumar, A. Macaya, A. Micalizzi & 14 others, M. Mirabelli-Badenier, A. Nemeth, S. Nuovo, B. Poll-The, T. Lerman-Sagie, M. Steinlin, M. Synofzik, M. A.J. Tijssen, G. Vasco, M. A.A.P. Willemsen, G. Zanni, E. M. Valente, E. Boltshauser & D. A. Sival, 2019 Sep 1, In: European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

    Research output: Contribution to journalArticle

  11. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

    Anouk Kuiper, Stephanie Grünewald, Elaine Murphy, Maraike A. Coenen, Hendriekje Eggink, Rodi Zutt, Maria E. Rubio-Gozalbo, Annet M. Bosch, Monique Williams, Terry G.J. Derks, Robin H.L. Lachmann, Martijn C.G.J. Brouwers, Mirian C.H. Janssen, Marina A. Tijssen & Tom J. de Koning, 2019 May 1, In: Journal of Inherited Metabolic Disease. 42, 3, p. 451-458 8 p.

    Research output: Contribution to journalArticle

  12. Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

    Martje E. van Egmond, Maria Fiorella Contarino, Coen H.A. Lugtenberg, Kathryn J. Peall, Oebele F. Brouwer, Victor S.C. Fung, Emmanuel Roze, Roy E. Stewart, Michel A. Willemsen, Nicole I. Wolf, Tom J. de Koning & Marina A. Tijssen, 2019 Mar, In: Movement Disorders. 34, 3, p. 317-320

    Research output: Contribution to journalArticle

  13. A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

    Irene J. Hoogeveen, Fabian Peeks, Foekje de Boer, Charlotte M.A. Lubout, Tom J. de Koning, Sebastiaan te Boekhorst, Robert Jan Zandvoort, Rob Burghard, Francjan J. van Spronsen & Terry G.J. Derks, 2018 Dec, In: Journal of Inherited Metabolic Disease. 41, 6, p. 929-936

    Research output: Contribution to journalArticle

  14. Progressive myoclonus ataxia: Time for a new definition?

    Sterre van der Veen, Rodi Zutt, Jan Willem J. Elting, Charlotte E. Becker, Tom J. de Koning & Marina A.J. Tijssen, 2018 Aug, In: Movement Disorders. 33, 8, p. 1281-1286

    Research output: Contribution to journalArticle

  15. Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders

    Martje E van Egmond, Hendriekje Eggink, Anouk Kuiper, Deborah A Sival, Corien C Verschuuren-Bemelmans, Marina A J Tijssen & Tom J de Koning, 2018 Apr 6, In: Journal of clinical movement disorders. 5, 3.

    Research output: Contribution to journalArticle

  16. Expanding the ADCY5 phenotype toward spastic paraparesis: Amutation in the M2 domain

    Anne J.E. Waalkens, Fleur Vansenne, Annemarie H. Van Der Hout, Rodi Zutt, Jeroen Mourmans, Eduardo Tolosa, Tom J. De Koning & Marina A.J. Tijssen, 2018 Feb, In: Neurology: Genetics. 4, 1, e214.

    Research output: Contribution to journalArticle

  17. Ketogenic Diet in Refractory Childhood Epilepsy: Starting With a Liquid Formulation in an Outpatient Setting

    Amerins Weijenberg, Margreet van Rijn, Petra M C Callenbach, Tom J de Koning & Oebele F Brouwer, 2018 Jan, In: Child neurology open. 5

    Research output: Contribution to journalArticle

  18. Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia

    D. L.Marinus Oterdoom, Martje E. Van Egmond, Luisa Cassini Ascencao, J. Marc C. Van Dijk, Assel Saryyeva, Martijn Beudel, Joachim Runge, Tom J. de Koning, Mahmoud Abdallat, Hendriekje Eggink, Marina A.J. Tijssen & Joachim K. Krauss, 2018, In: Tremor and Other Hyperkinetic Movements. 8, p. 1-4 4 p., 530.

    Research output: Contribution to journalArticle

  19. Non-motor symptoms and quality of life in dopa-responsive dystonia patients

    E. R. Timmers, A. Kuiper, M. Smit, A. L. Bartels, D. J. Kamphuis, N. I. Wolf, B. T. Poll-The, T. Wassenberg, E. A.J. Peeters, T. J. de Koning & M. A.J. Tijssen, 2017 Dec 1, In: Parkinsonism and Related Disorders. 45, p. 57-62 6 p.

    Research output: Contribution to journalArticle

  20. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation

    Mieke Aldenhoven, Brigitte T.A. Van Den Broek, Robert F. Wynn, Anne O'Meara, Paul Veys, Attilio Rovelli, Simon A. Jones, Rossella Parini, Peter M. Van Hasselt, Marleen Renard, Victoria Bordon, Tom J. De Koning & Jaap Jan Boelens, 2017 Nov 14, In: Blood Advances. 1, 24, p. 2236-2242 7 p.

    Research output: Contribution to journalArticle

  21. Rapid targeted genomics in critically ill newborns

    Cleo C. Van Diemen, Wilhelmina S. Kerstjens-Frederikse, Klasien A. Bergman, Tom J. De Koning, Birgit Sikkema-Raddatz, Joeri K. Van Der Velde, Kristin M. Abbott, Johanna C. Herkert, Katharina Lohner, Patrick Rump, Martine T. Meems-Veldhuis, Pieter B.T. Neerincx, Jan D.H. Jongbloed, Conny M. Van Ravenswaaij-Arts, Morris A. Swertz, Richard J. Sinke, Irene M. Van Langen & Cisca Wijmenga, 2017 Oct 1, In: Pediatrics. 140, 4, e20172854.

    Research output: Contribution to journalArticle

  22. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

    Christian J. Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean Christophe Corvol, Tom J. de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik & 7 others, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten & Stefan A. Kolb, 2017 May 4, In: Current Medical Research and Opinion. 33, 5, p. 877-890 14 p.

    Research output: Contribution to journalArticle

  23. A post hoc study on gene panel analysis for the diagnosis of dystonia

    Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer, Maria Fiorella Contarino, Victor S.C. Fung, M. Rebecca Heiner-Fokkema, Jacobus J. van Hilten, Annemarie H. van der Hout, Kathryn J. Peall, Richard J. Sinke, Emmanuel Roze, Corien C. Verschuuren-Bemelmans, Michel A. Willemsen, Nicole I. Wolf, Marina A. Tijssen & Tom J. de Koning, 2017 Apr 1, In: Movement Disorders. 32, 4, p. 569-575 7 p.

    Research output: Contribution to journalArticle

  24. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: An observational prospective open-label study

    Martje E. Van Egmond, Amerins Weijenberg, Margreet E. Van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A.J. Tijssen, Oebele F. Brouwer & Tom J. De Koning, 2017 Mar 7, In: Orphanet Journal of Rare Diseases. 12, 1, 45.

    Research output: Contribution to journalArticle

  25. Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

    Roelineke J. Lunsing, Kim Strating, Tom J. de Koning & Paul E. Sijens, 2017 Mar 1, In: European Radiology. 27, 3, p. 976-984 9 p.

    Research output: Contribution to journalArticle

  26. GAVIN: Gene-Aware Variant INterpretation for medical sequencing

    K. Joeri van der Velde, Eddy N. de Boer, Cleo C. van Diemen, Birgit Sikkema-Raddatz, Kristin M. Abbott, Alain Knopperts, Lude Franke, Rolf H. Sijmons, Tom J. de Koning, Cisca Wijmenga, Richard J. Sinke & Morris A. Swertz, 2017 Jan 16, In: Genome Biology. 18, 1, 6.

    Research output: Contribution to journalArticle

  27. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

    L. H. Koens, A. Kuiper, M. A. Coenen, J. W.J. Elting, J. J. De Vries, M. Engelen, J. H.T.M. Koelman, F. J. Van Spronsen, J. M. Spikman, T. J. De Koning & M. A.J. Tijssen, 2016 Sep 1, In: Orphanet Journal of Rare Diseases. 11, 1, 121.

    Research output: Contribution to journalArticle

  28. Neurometabolic disorders are treatable causes of dystonia

    A. Kuiper, H. Eggink, M. A.J. Tijssen & T. J. de Koning, 2016 Aug 1, In: Revue Neurologique. 172, 8-9, p. 455-464 10 p.

    Research output: Contribution to journalArticle

  29. Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome

    Hendriekje Eggink, Anouk Kuiper, Cathérine C.S. Delnooz, Deborah A. Sival, Tom J. De Koning & Marina A.J. Tijssen, 2016 Jul 1, In: European Journal of Paediatric Neurology. 20, 4, p. 671-673 3 p.

    Research output: Contribution to journalArticle

  30. Polyhydramnios, transient antenatal bartter's syndrome, and MAGED2 mutations

    Kamel Laghmani, Bodo B. Beck, Sung Sen Yang, Elie Seaayfan, Andrea Wenzel, Bjorn Reusch, Helga Vitzthum, Dario Priem, Sylvie Demaretz, Klasien Bergmann, Leonie K. Duin, Heike Gobel, Christoph Mache, Holger Thiele, Malte P. Bartram, Carlos Dombret, Janine Altmuller, Peter Nurnberg, Thomas Benzing, Elena Levtchenko & 13 others, Hannsjorg W. Seyberth, Gunter Klaus, Gokhan Yigit, Shih Hua Lin, Albert Timmer, Tom J. De Koning, Sicco A. Scherjon, Karl P. Schlingmann, Mathieu J.M. Bertrand, Markus M. Rinschen, Olivier De Backer, Martin Konrad & Martin Komhoff, 2016 May 12, In: New England Journal of Medicine. 374, 19, p. 1853-1863 11 p.

    Research output: Contribution to journalArticle

  31. Reliability of phenotypic early-onset ataxia assessment: A pilot study

    Tjitske F. Lawerman, Rick Brandsma, Joke T. van Geffen, Roelineke J. Lunsing, Huibert Burger, Marina A.J. Tijssen, Jeroen J. de Vries, Tom J. de Koning & Deborah A. Sival, 2016 Jan 1, In: Developmental Medicine and Child Neurology. 58, 1, p. 70-76 7 p.

    Research output: Contribution to journalArticle

  32. Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI

    Wendy E. Heywood, Stephane Camuzeaux, Ivan Doykov, Nina Patel, Rhian Lauren Preece, Emma Footitt, Maureen Cleary, Peter Clayton, Stephanie Grunewald, Lara Abulhoul, Anupam Chakrapani, Neil J. Sebire, Peter Hindmarsh, Tom J. De Koning, Simon Heales, Derek Burke, Paul Gissen & Kevin Mills, 2015 Dec 15, In: Analytical Chemistry. 87, 24, p. 12238-12244 7 p.

    Research output: Contribution to journalArticle

  33. Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma

    J. J. Luykx, S. C. Bakker, W. F. Visser, N. Verhoeven-Duif, J. E. Buizer-Voskamp, J. M. Den Heijer, M. P.M. Boks, J. H. Sul, E. Eskin, A. P. Ori, R. M. Cantor, J. Vorstman, E. Strengman, J. Deyoung, T. H. Kappen, E. Pariama, E. P.A. Van Dongen, P. Borgdorff, P. Bruins, T. J. De Koning & 2 others, R. S. Kahn & R. A. Ophoff, 2015 Dec 1, In: Molecular Psychiatry. 20, 12, p. 1557-1564 8 p.

    Research output: Contribution to journalArticle

  34. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: An international multicenter study

    Mieke Aldenhoven, Robert F. Wynn, Paul J. Orchard, Anne O'Meara, Paul Veys, Alain Fischer, Vassili Valayannopoulos, Benedicte Neven, Attilio Rovelli, Vinod K. Prasad, Jakub Tolar, Heather Allewelt, Simon A. Jones, Rossella Parini, Marleen Renard, Victoria Bordon, Nico M. Wulffraat, Tom J. De Koning, Elsa G. Shapiro, Joanne Kurtzberg & 1 others, Jaap Jan Boelens, 2015 Mar 26, In: Blood. 125, 13, p. 2164-2172 9 p.

    Research output: Contribution to journalArticle

  35. Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea

    Martje E. van Egmond, Anouk Kuiper, Jan Willem J. Elting, Oebele F. Brouwer, Tom J. de Koning & Marina A.J. Tijssen, 2015 Mar 1, In: Movement Disorders Clinical Practice. 2, 1, p. 61-63 3 p.

    Research output: Contribution to journalArticle

  36. Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

    Martje E. Van Egmond, Jan Willem J. Elting, Anouk Kuiper, Rodi Zutt, Kirsten R. Heineman, Oebele F. Brouwer, Deborah A. Sival, Michel A. Willemsen, Marina A.J. Tijssen & Tom J. De Koning, 2015 Jan 1, In: European Journal of Paediatric Neurology. 19, 6, p. 726-729 4 p.

    Research output: Contribution to journalArticle

  37. Assessment of speech in early-onset ataxia: A pilot study

    Marieke J. Kuiper, Rick Brandsma, Tjitske F. Lawerman, Roelineke J. Lunsing, Anne L. Keegstra, Huibert Burger, Tom J. De Koning, Marina A.J. Tijssen & Deborah A. Sival, 2014 Dec 1, In: Developmental Medicine and Child Neurology. 56, 12, p. 1202-1206 5 p.

    Research output: Contribution to journalArticle

  38. Impaired cognitive functioning in patients with tyrosinemia type i receiving nitisinone

    Fatiha Bendadi, Tom J. De Koning, Gepke Visser, Hubertus C.M.T. Prinsen, Monique G.M. De Sain, Nanda Verhoeven-Duif, Gerben Sinnema, Francjan J. Van Spronsen & Peter M. Van Hasselt, 2014 Feb 1, In: Journal of Pediatrics. 164, 2, p. 398-401 4 p.

    Research output: Contribution to journalArticle

  39. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

    Hendriekje Eggink, Anouk Kuiper, Kathryn J. Peall, Maria Fiorella Contarino, Annet M. Bosch, Bart Post, Deborah A. Sival, Marina A.J. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Orphanet Journal of Rare Diseases. 9, 177.

    Research output: Contribution to journalArticle

  40. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency

    Eugene F. Diekman, Tom J. De Koning, Nanda M. Verhoeven-Duif, Maroeska M. Rovers & Peter M. Van Hasselt, 2014 Jan 1, In: JAMA Neurology. 71, 2, p. 188-194 7 p.

    Research output: Contribution to journalArticle

  41. Periodic fever in MVK deficiency: A patient initially diagnosed with incomplete Kawasaki disease

    Valtyr S. Thors, Sebastiaan J. Vastert, Nico Wulffraat, Annet Van Royen, Joost Frenkel, Monique De Sain-Van Der Velden & Tom J. De Koning, 2014 Jan 1, In: Pediatrics. 133, 2

    Research output: Contribution to journalArticle

  42. Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation

    Martje E. van Egmond, Corien C. Verschuuren-Bemelmans, Esther A. Nibbeling, Jan Willem J. Elting, Deborah A. Sival, Oebele F. Brouwer, Jeroen J. de Vries, Hubertus P. Kremer, Richard J. Sinke, Marina A. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Movement Disorders. 29, 1, p. 139-143 5 p.

    Research output: Contribution to journalArticle

  43. Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

    Maria Veiga-Da-Cunha, Nanda M. Verhoeven-Duif, Tom J. De Koning, Marinus Duran, Bert Dorland & Emile Van Schaftingen, 2013 Nov 1, In: Journal of Inherited Metabolic Disease. 36, 6, p. 961-966 6 p.

    Research output: Contribution to journalArticle

  44. D-amino acid aberrations in cerebrospinal fluid and plasma of smokers

    Jurjen J. Luykx, Steven C. Bakker, Loes Van Boxmeer, Christiaan H. Vinkers, Hanne E. Smeenk, Wouter F. Visser, Nanda M. Verhoeven-Duif, Eric Strengman, Jacobine E. Buizer-Voskamp, Lizzy De Groene, Eric Pa Van Dongen, Paul Borgdorff, Peter Bruins, Tom J. De Koning, René S. Kahn & Roel A. Ophoff, 2013 Sep 1, In: Neuropsychopharmacology. 38, 10, p. 2019-2026 8 p.

    Research output: Contribution to journalArticle

  45. An update on serine deficiency disorders

    S. N. Van Der Crabben, N. M. Verhoeven-Duif, E. H. Brilstra, L. Van Maldergem, T. Coskun, E. Rubio-Gozalbo, R. Berger & T. J. De Koning, 2013 Jul 1, In: Journal of Inherited Metabolic Disease. 36, 4, p. 613-619 7 p.

    Research output: Contribution to journalArticle

  46. The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model

    Monique Albersen, Marjolein Bosma, Nine V.V.A.M. Knoers, Berna H.B. de Ruiter, Eugène F. Diekman, Jessica de Ruijter, Wouter F. Visser, Tom J. de Koning & Nanda M. Verhoeven-Duif, 2013 Jan 14, In: PLoS ONE. 8, 1, e54113.

    Research output: Contribution to journalArticle

  47. A common variant in ERBB4 regulates gaba concentrations in human cerebrospinal fluid

    Jurjen J. Luykx, Christiaan H. Vinkers, Steven C. Bakker, Wouter F. Visser, Loes Van Boxmeer, Eric Strengman, Kristel R. Van Eijk, Judith A. Lens, Paul Borgdorff, Peter Keijzers, Teus H. Kappen, Eric P.A. Van Dongen, Peter Bruins, Nanda M. Verhoeven, Tom J. De Koning, René S. Kahn & Roel A. Ophoff, 2012 Aug 1, In: Neuropsychopharmacology. 37, 9, p. 2088-2092 5 p.

    Research output: Contribution to journalArticle

  48. Vitamin B6 Vitamer concentrations in cerebrospinal fluid differ between preterm and termnewborn infants

    Monique Albersen, Floris Groenendaal, Maria Der Van Ham, Tom J. De Koning, Marjolein Bosma, Wouter F. Visser, Gepke Visser, Monique G.M. De Sain-van Der Velden & Nanda M. Verhoeven-Duif, 2012 Jul 1, In: Pediatrics. 130, 1

    Research output: Contribution to journalArticle

  49. Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia: A potential novel treatment target for perinatal asphyxia

    Sabine A. Fuchs, Cacha M.P.C.D. Peeters-Scholte, Martina M.J. De Barse, Martin W. Roeleveld, Leo W.J. Klomp, Ruud Berger & Tom J. De Koning, 2012 Jul 1, In: Amino Acids. 43, 1, p. 355-363 9 p.

    Research output: Contribution to journalArticle

  50. Identification of a human trans-3-hydroxy-L-proline dehydratase, the first characterized member of a novel family of proline racemase-like enzymes

    Wouter F. Visser, Nanda M. Verhoeven-Duif & Tom J. De Koning, 2012 Jun 22, In: Journal of Biological Chemistry. 287, 26, p. 21654-21662

    Research output: Contribution to journalArticle

  51. Quantification of vitamin B6 vitamers in human cerebrospinal fluid by ultra performance liquid chromatography-tandem mass spectrometry

    M. Vander Ham, M. Albersen, T. J. de Koning, G. Visser, A. Middendorp, M. Bosma, N. M. Verhoeven-Duif & M. G.M. De Sain-van der Velden, 2012 Jan 27, In: Analytica Chimica Acta. 712, p. 108-114 7 p.

    Research output: Contribution to journalArticle

  52. A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of d-amino acids in body fluids

    Wouter F. Visser, Nanda M. Verhoeven-Duif, Roel Ophoff, Steven Bakker, Leo W. Klomp, Ruud Berger & Tom J. De Koning, 2011 Oct 7, In: Journal of Chromatography A. 1218, 40, p. 7130-7136 7 p.

    Research output: Contribution to journalArticle

  53. Intracranial bleeding due to vitamin K deficiency: Advantages of using a pediatric intensive care registry

    Désirée Y. Visser, Nicolaas J. Jansen, Marloes M. Ijland, Tom J. De Koning & Peter M. Van Hasselt, 2011 Jun 1, In: Intensive Care Medicine. 37, 6, p. 1014-1020 7 p.

    Research output: Contribution to journalArticle

  54. Metabolic profiles in children during fasting

    Merel R. Van Veen, Peter M. Van Hasselt, Monique G.M. De Sain-van Der Velden, Nanda Verhoeven, Floris C. Hofstede, Tom J. De Koning & Gepke Visser, 2011 Apr 1, In: Pediatrics. 127, 4

    Research output: Contribution to journalArticle

  55. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

    L. Tabatabaie, L. W.J. Klomp, M. E. Rubio-Gozalbo, L. J.M. Spaapen, A. A.M. Haagen, L. Dorland & T. J. De Koning, 2011 Feb 1, In: Journal of Inherited Metabolic Disease. 34, 1, p. 181-184 4 p.

    Research output: Contribution to journalArticle

  56. Hydrolysed formula is a risk factor for vitamin K deficiency in infants with unrecognised cholestasis

    P. M. Van Hasselt, W. De Vries, E. De Vries, K. Kok, E. C.M. Cranenburg, T. J. De Koning, L. J. Schurgers, H. J. Verkade & R. H.J. Houwen, 2010 Dec 1, In: Journal of Pediatric Gastroenterology and Nutrition. 51, 6, p. 773-776 4 p.

    Research output: Contribution to journalArticle

  57. Fatal cerebral edema associated with serine deficiency in CSF

    Irene M.L.W. Keularts, Piet L.J.M. Leroy, Estela M. Rubio-Gozalbo, Leo J.M. Spaapen, Biene Weber, Bert Dorland, Tom J. De Koning & Nanda M. Verhoeven-Duif, 2010 Dec, In: Journal of Inherited Metabolic Disease. 33, SUPPL. 3, p. 181-185

    Research output: Contribution to journalArticle

  58. Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders

    Stuart Moat, Rachel Carling, Authur Nix, Michael Henderson, Anthony Briddon, Helen Prunty, Roy Talbot, Annette Powell, Katherine Wright, Sabine Fuchs & Tom de Koning, 2010 Oct 1, In: Molecular Genetics and Metabolism. 101, 2-3, p. 149-152 4 p.

    Research output: Contribution to journalArticle

  59. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

    Jürgen Lübbehusen, Christian Thiel, Nina Rind, Daniel Ungar, Berthil H.C.M.T. Prinsen, Tom J. de Koning, Peter M. van Hasselt & Christian Körner, 2010 Sep 15, In: Human Molecular Genetics. 19, 18, p. 3623-3633

    Research output: Contribution to journalArticle

  60. Fatal cerebral edema associated with serine deficiency in CSF

    I. M.L.W. Keularts, E. M. Rubio-Gozalbo, L. J.M. Spaapen, L. Dorland, T. J. De Koning & N. M. Verhoeven-Duif, 2010 Jul 1, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 35, 3, p. 189-191 3 p.

    Research output: Contribution to journalArticle

  61. Dried Blood Spot Analysis: An Easy and Reliable Tool to Monitor the Biochemical Effect of Hematopoietic Stem Cell Transplantation in Hurler Syndrome Patients

    Mieke Aldenhoven, Tom J. de Koning, Frans W. Verheijen, Berthil H. Prinsen, Frits A. Wijburg, Ans T. van der Ploeg, Monique G.M. de Sain-van der Velden & Jaap Jan Boelens, 2010 May 1, In: Biology of Blood and Marrow Transplantation. 16, 5, p. 701-704 4 p.

    Research output: Contribution to journalArticle

  62. Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid

    Maria van der Ham, Tom J. de Koning, Dirk Lefeber, André Fleer, Berthil H.C.M.T. Prinsen & Monique G.M. de Sain-van der Velden, 2010 May 1, In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 878, 15-16, p. 1098-1102 5 p.

    Research output: Contribution to journalArticle

  63. Whole body composition analysis by the BodPod air-displacement plethysmography method in children with Phenylketonuria shows a higher body fat percentage

    Monique Albersen, Marjolein Bonthuis, Nicole M. De Roos, Dorine A.M. Van Den Hurk, Ems Carbasius Weber, Margriet M.W.B. Hendriks, Monique G.M. De Sain-Van Der Velden, Tom J. De Koning & Gepke Visser, 2010 Jan 1, In: Journal of Inherited Metabolic Disease. 33, SUPPL. 3

    Research output: Contribution to journalArticle

  64. Magnetic resonance imaging pattern recognition in hypomyelinating disorders

    Marjan E. Steenweg, Adeline Vanderver, Susan Blaser, Alberto Bizzi, Tom J. De Koning, Grazia M.S. Mancini, Wessel N. Van Wieringen, Frederik Barkhof, Nicole I. Wolf & Marjo S. Van Der Knaap, 2010 Jan 1, In: Brain. 133, 10, p. 2971-2982 12 p.

    Research output: Contribution to journalArticle

  65. Presenterende symptomen bij het syndroom van Hurler: Handvatten voor een eerdere diagnose?

    C. M.L. Touw, M. Aldenhoven, P. M. Van Hasselt, F. A. Wijburg, Q. Teunissen, A. T. Van Der Ploeg, M. F. Mulder, J. J. Boelens & T. J. De Koning, 2010 Jan 1, In: Tijdschrift voor Kindergeneeskunde. 78, 4, p. 149-154 6 p.

    Research output: Contribution to journalArticle

  66. Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

    Bianca T. van Maldegem, Marinus Duran, Ronald J.A. Wanders, Hans R. Waterham, Tom J. de Koning, Estela Rubio & Frits A. Wijburg, 2010 Jan 1, In: Journal of Pediatrics. 156, 1, p. 121-127

    Research output: Contribution to journalArticle

  67. 3-phosphoglycerate dehydrogenase deficiency: A case report of a treatable cause of seizures

    Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloǧlu, Haluk Topaloǧlu, Kader Karli-Oǧuz & Tom J. De Koning, 2009 Nov 1, In: Turkish Journal of Pediatrics. 51, 6, p. 587-592 6 p.

    Research output: Contribution to journalArticle

  68. Vitamin K deficiency bleeding in cholestatic infants with alpha-1-antitrypsin deficiency

    P. M. Van Hasselt, K. Kok, A. D.M. Vorselaars, L. Van Vlerken, E. Nieuwenhuys, T. J. De Koning, R. A. De Vries & R. H.J. Houwen, 2009 Nov 1, In: Archives of Disease in Childhood: Fetal and Neonatal Edition. 94, 6

    Research output: Contribution to journalArticle

  69. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

    L. Tabatabaie, T. J. De Koning, A. J.J.M. Geboers, I. E.T. Van Den Berg, R. Berger & L. W.J. Klomp, 2009 May 1, In: Human Mutation. 30, 5, p. 749-756 8 p.

    Research output: Contribution to journalArticle

  70. Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

    F. J. van Spronsen, M. Rijn, B. Dorgelo, M. Hoeksma, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. de Koning, M. Estela Rubio-Gozalbo, M. de Vries & P. H. Verkerk, 2009 Feb, In: Journal of Inherited Metabolic Disease. 32, 1, p. 27-31

    Research output: Contribution to journalArticle

  71. A Survey of Natural Protein Intake in Dutch Phenylketonuria Patients: Insight into Estimation or Measurement of Dietary Intake

    Margreet van Rijn, Jolanda Jansma, Aeltsje Brinksma, H. D. Bakker, G. H.J. Boers, E. Carbasius-Weber, A. C. Douwes, A. van den Herberg, N. M. ter Horst, J. B.C. de Klerk, T. J. de Koning, L. van den Ploeg, M. E. Rubio-Gozalbo, J. P. Sels, R. C.A. Sengers, H. W. de Valk, H. Termeulen, H. Zweers & Francjan J. van Spronsen, 2008 Oct 1, In: Journal of the American Dietetic Association. 108, 10, p. 1704-1707

    Research output: Contribution to journalArticle

  72. Two mass-spectrometric techniques for quantifying serine enantiomers and glycine in cerebrospinal fluid: Potential confounders and age-dependent ranges

    Sabine A. Fuchs, Monique G.M. De Sain-van Der Velden, Martina M.J. De Barse, Martin W. Roeleveld, Margriet Hendriks, Lambertus Dorland, Leo W.J. Klomp, Ruud Berger & Tom J. De Koning, 2008 Aug 9, In: Clinical Chemistry. 54, 9, p. 1443-1450

    Research output: Contribution to journalArticle

  73. Yield of additional metabolic studies in neurodevelopmental disorders

    Hannelie M. Engbers, Ruud Berger, Peter Van Hasselt, Tom De Koning, Monique G.M. De Sain-Van Der Velden, Hester Y. Kroes & Gepke Visser, 2008 Aug 1, In: Annals of Neurology. 64, 2, p. 212-217 6 p.

    Research output: Contribution to journalArticle

  74. A new, sensitive LC-MS/MS assay for quantification of uric acid in urine

    M. Van Der Ham, B. H.C.M.T. Prinsen, I. M.L.W. Keularts, J. Bierau, T. J. De Koning & M. G.M. De Sain-van Der Velden, 2008 Jul 1, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 33, 3, p. 175-176 2 p.

    Research output: Contribution to journalArticle

  75. Cerebrospinal fluid d-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients

    Sabine A. Fuchs, Martina M.J. De Barse, Floor E. Scheepers, Wiepke Cahn, Lambertus Dorland, Monique G. de Sain-van der Velden, Leo W.J. Klomp, Ruud Berger, René S. Kahn & Tom J. de Koning, 2008 May 1, In: European Neuropsychopharmacology. 18, 5, p. 333-338

    Research output: Contribution to journalArticle

  76. Prevention of vitamin k deficiency bleeding in breastfed infants: lessons from the dutch and danish biliary atresia registries

    Peter M. Van Hasselt, Tom J. De Koning, Nina Kvist, Elsemieke De Vries, Christina Rydahl Lundin, Ruud Berger, Jan L.L. Kimpen, Roderick H.J. Houwen, Marianne Horby Jorgensen & Henkjan J. Verkade, 2008 Apr 1, In: Pediatrics. 121, 4, p. e857-e863

    Research output: Contribution to journalArticle

  77. Quantification of free and total sialic acid excretion by LC-MS/MS

    Maria van der Ham, Berthil H.C.M.T. Prinsen, Jan G.M. Huijmans, Nicolaas G.G.M. Abeling, Bert Dorland, Ruud Berger, Tom J. de Koning & Monique G.M. de Sain-van der Velden, 2007 Apr 1, In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 848, 2, p. 251-257 7 p.

    Research output: Contribution to journalArticle

  78. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance.

    M. A. Benninga, M. Lilien, T. J. de Koning, M. Duran, F. G. Versteegh, R. Goldschmeding & B. T. Poll-The, 2007 Jan 1, In: Journal of Inherited Metabolic Disease. 30, 3, p. 402-403 2 p.

    Research output: Contribution to journalArticle

  79. D-serine in the developing human central nervous system

    Sabine A. Fuchs, Lambertus Dorland, Monique G. De Sain-Van Der Velden, Margriet Hendriks, Leo W.J. Klomp, Ruud Berger & Tom J. De Koning, 2006 Oct 1, In: Annals of Neurology. 60, 4, p. 476-480 5 p.

    Research output: Contribution to journalArticle

  80. Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

    H. Vlaardingerbroek, G. Hornstra, T. J. de Koning, J. A.M. Smeitink, H. D. Bakker, H. B.C. de Klerk & M. E. Rubio-Gozalbo, 2006 Jun 1, In: Molecular Genetics and Metabolism. 88, 2, p. 159-165 7 p.

    Research output: Contribution to journalArticle

  81. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

    S. Wortmann, R. J.T. Rodenburg, M. Huizing, F. J. Loupatty, T. de Koning, L. A.J. Kluijtmans, U. Engelke, R. Wevers, J. A.M. Smeitink & E. Morava, 2006 May 1, In: Molecular Genetics and Metabolism. 88, 1, p. 47-52 6 p.

    Research output: Contribution to journalArticle

  82. Treatment with amino acids in serine deficiency disorders

    T. J. de Koning, 2006 Apr 1, In: Journal of Inherited Metabolic Disease. 29, 2-3, p. 347-351 5 p.

    Research output: Contribution to journalArticle

  83. The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

    M. Hoeksma, M. van Rijn, P. H. Verkerk, A. M. Bosch, M. F. Mulder, J. B.C. de Klerk, T. J. de Koning, E. Rubio-Gozalbo, M. de Vries, P. J.J. Sauer & F. J. van Spronsen, 2005 Dec 1, In: Journal of Inherited Metabolic Disease. 28, 6, p. 845-854 10 p.

    Research output: Contribution to journalArticle

  84. Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency

    T. Takken, J. W.H. Custers, G. Visser, L. Dorland, P. J.M. Helders & T. J. De Koning, 2005 May 20, In: Nutrition and Metabolism. 2, 12.

    Research output: Contribution to journalArticle

  85. Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

    M. A. Cleary, L. Dorland, T. J. de Koning, B. T. Poll-The, M. Duran, R. Mandell, V. E. Shih, R. Berger, S. E. Olpin & Guy T.N. Besley, 2005 Jan 1, In: Journal of Inherited Metabolic Disease. 28, 5, p. 673-679 7 p.

    Research output: Contribution to journalArticle

  86. Glutathione synthetase deficiency associated with antenatal cerebral bleeding

    L. W. Br̈ggemann, F. Groenendaal, E. Ristoff, A. Larsson, M. Duran, J. A.C. van Lier, L. Dorland, R. Berger & T. J. de Koning, 2004 Jun 23, In: Journal of Inherited Metabolic Disease. 27, 2, p. 275-276 2 p.

    Research output: Contribution to journalArticle

  87. Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

    Angelique B.C. Roeleveld-Versteegh, K. P.J. Braun, J. A.M. Smeitink, L. Dorland & T. J. de Koning, 2004 Jun 23, In: Journal of Inherited Metabolic Disease. 27, 2, p. 281-283 3 p.

    Research output: Contribution to journalArticle

  88. Energy expenditure in patients with propionic and methylmalonic acidaemias

    C. C. van Hagen, E. Carbasius Weber, Th A.M. van den Hurk, J. H. Oudshoorn, L. Dorland, R. Berger & T. de Koning, 2004 Apr 13, In: Journal of Inherited Metabolic Disease. 27, 1, p. 111-112 2 p.

    Research output: Contribution to journalArticle

  89. Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik

    Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom De Koning, Kurt Von Figura, Ludwig Lehle & Christian Körner, 2004 Jan 1, In: American Journal of Human Genetics. 74, 3, p. 472-481 10 p.

    Research output: Contribution to journalArticle

  90. Serinedeficiëntie

    T. J. De Koning, L. W J Klomp, I. E T Van Den Berg, L. Dorland & R. Berger, 2003 Nov 1, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 28, 6, p. 325-328 4 p.

    Research output: Contribution to journalArticle

  91. De zuigeling met een vitamine-K-deficiëntiebloeding ondanks adequate profylaxe

    P. M. Van Hasselt, R. H.J. Houwen, A. T.H. Van Dijk & T. J. De Koning, 2003 Apr 19, In: Nederlands Tijdschrift voor Geneeskunde. 147, 16, p. 737-740 4 p.

    Research output: Contribution to journalArticle

  92. Plasma pipecolic acid is frequently elevated in non-peroxisomal disease

    J. C.M. Baas, R. van de Laar, L. Dorland, M. Duran, R. Berger, B. T. Poll-The & T. J. de Koning, 2002 Dec 1, In: Journal of Inherited Metabolic Disease. 25, 8, p. 699-701 3 p.

    Research output: Contribution to journalArticle

  93. Glutaric aciduria type III: A distinctive non-disease?

    I. Knerr, J. Zschocke, U. Trautmann, L. Dorland, T. J. De Koning, P. Müller, E. Christensen, F. K. Trefz, G. F. Wündisch, W. Rascher & G. F. Hoffman, 2002 Oct 1, In: Journal of Inherited Metabolic Disease. 25, 6, p. 483-490 8 p.

    Research output: Contribution to journalArticle

  94. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

    T. J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, R. Gooskens, J. Jaeken & B. T. Poll-The, 2002 Jul 9, In: Journal of Inherited Metabolic Disease. 25, 2, p. 119-125 7 p.

    Research output: Contribution to journalArticle

  95. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

    L. J.M. Spaapen, J. A. Bakker, C. Velter, W. Loots, M. E. Rubio-Gonzalbo, P. P. Forget, L. Dorland, T. J. De Koning, B. T. Poll-The, H. K. Ploos Van Amstel, J. Bekhof, N. Blau & M. Duran, 2001 Aug 6, In: Journal of Inherited Metabolic Disease. 24, 3, p. 352-358 7 p.

    Research output: Contribution to journalArticle

  96. CDG type 1B: Kliniek, diagnostiek en behandeling

    T. J. De Koning, 2000 Dec 1, In: Tijdschrift voor Kindergeneeskunde. 68, SUPPL. 1, p. 51-51 1 p.

    Research output: Contribution to journalArticle

  97. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency

    T. J. De Koning, J. Jaeken, M. Pineda, L. Van Maldergem, B. T. Poll-The & M. S. Van der Knaap, 2000 Dec 1, In: Neuropediatrics. 31, 6, p. 287-292 6 p.

    Research output: Contribution to journalArticle

  98. Hyperketonaemia in glycerol kinase deficiency

    D. R. Sjarif, L. Dorland, W. Sperl, T. J. De Koning, F. A. Beemer, B. T. Poll-The & M. Duran, 2000 Nov 29, In: Journal of Inherited Metabolic Disease. 23, 7, p. 760-764 5 p.

    Research output: Contribution to journalArticle

  99. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)

    E. Schollen, L. Dorland, T. J. De Koning, O. P. Van Diggelen, J. G.M. Huijmans, T. Marquardt, D. Babovic-Vuksanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze & G. Matthijs, 2000 Sep, In: Human Mutation. 16, 3, p. 247-252

    Research output: Contribution to journalArticle

  100. Mevalonic aciduria in 12 unrelated patients with hygerimmunoglobulinaemia D and periodic fever syndrome

    B. T. Poll-The, J. Frenkel, S. M. Houten, W. Kuis, M. Duran, T. J. De Koning, L. Dorland, M. M.J. De Barse, G. J. Romeijn, R. J.A. Wanders & H. R. Waterham, 2000 Jun 27, In: Journal of Inherited Metabolic Disease. 23, 4, p. 363-366 4 p.

    Research output: Contribution to journalArticle

Previous 1 2 Next